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Thirty\u2010five patients with aminoacidopathy were identified, all but two of whom were the offspring of first\u2010degree consanguineous marriages: nine cases of phenylketonuria, one benign hyperphenylalaninaemia, seven non\u2010ketotic hyperglycinaemia, five tyrosinaemia, five homocystinuria, four citrullinaemia, two cystinuria, one hyperprolinaemia, and one maple syrup urine disease. The clinical and biochemical findings in these cases are described.<\/jats:p>","DOI":"10.1007\/bf01800370","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T17:04:24Z","timestamp":1119373464000},"page":"277-284","source":"Crossref","is-referenced-by-count":16,"title":["Aminoacidopathies: A review of 3 years experience of investigations in a Kuwait hospital"],"prefix":"10.1002","volume":"11","author":[{"given":"G. C.","family":"Yadav","sequence":"first","affiliation":[{"name":"Department of Clinical Biochemistry Al\u2010Sabah Hospital  P.O. Box 4078 Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. C.","family":"Reavey","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry Al\u2010Sabah Hospital  P.O. Box 4078 Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1987,8,27]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00236.x"},{"key":"e_1_2_1_3_1","first-page":"71","volume-title":"Metabolic Diseases in Pediatric Practice","author":"Ampola M. G.","year":"1982"},{"key":"e_1_2_1_4_1","first-page":"99","volume-title":"Metabolic Diseases in Pediatric Practice","author":"Ampola M. G.","year":"1982"},{"key":"e_1_2_1_5_1","first-page":"73","volume-title":"Metabolic Diseases in Pediatric Practice","author":"Ampola M. G.","year":"1982"},{"key":"e_1_2_1_6_1","first-page":"2","volume-title":"Metabolic Diseases in Pediatric Practice","author":"Ampola M. 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